Canonical Allele Identifier: CA729343645

Gene:

Linked Data

• dbSNP Id: rs1407618137
• gnomAD v4: 1-193121708-T-C
• MyVariant Identifiers: chr1:g.193090838T>C (hg19) ; chr1:g.193121708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121708T>C , CM000663.2:g.193121708T>C	GRCh38
NC_000001.10:g.193090838T>C , CM000663.1:g.193090838T>C	GRCh37
NC_000001.9:g.191357461T>C	NCBI36
NG_012691.1:g.4751T>C , LRG_507:g.4751T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1949A>G